To establish a profile of the causes of apparently unexplained SS in genetic ref erral center and evaluate the current referral system Methods This was a retrospective database survey on patients who were referred our...To establish a profile of the causes of apparently unexplained SS in genetic ref erral center and evaluate the current referral system Methods This was a retrospective database survey on patients who were referred our clini cal genetic service from 1988-1998 primarily because of SS We retrieved the st udy population from our computer database using "short stature" as a search han dle and then studied the demographic, clinical and laboratory data from their me dical records Results Three hundred and fifty three subjects were referred for genetic evaluation of SS in 1988-1998 The mean age of referred subjects was 11 5 years and the female to male ratio was 7 6 All referrals had undergone cytogenetic studies to exclude chromosomal abnormal ities, 19% of girls with apparently unexplained short stature had Turner syndrom e; at least 47 9% of the study population were normal variants and 25% of the referrals had inadequate information for classification Conclusions Genetic investigation is essential in the management of patients with SS, especi ally for girls suspected of having Turner syndrome, in which growth hormone trea tment has shown to improve final height We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short statur e, and discussed the drawbacks of the current referral展开更多
文摘To establish a profile of the causes of apparently unexplained SS in genetic ref erral center and evaluate the current referral system Methods This was a retrospective database survey on patients who were referred our clini cal genetic service from 1988-1998 primarily because of SS We retrieved the st udy population from our computer database using "short stature" as a search han dle and then studied the demographic, clinical and laboratory data from their me dical records Results Three hundred and fifty three subjects were referred for genetic evaluation of SS in 1988-1998 The mean age of referred subjects was 11 5 years and the female to male ratio was 7 6 All referrals had undergone cytogenetic studies to exclude chromosomal abnormal ities, 19% of girls with apparently unexplained short stature had Turner syndrom e; at least 47 9% of the study population were normal variants and 25% of the referrals had inadequate information for classification Conclusions Genetic investigation is essential in the management of patients with SS, especi ally for girls suspected of having Turner syndrome, in which growth hormone trea tment has shown to improve final height We also highlight the inherited causes of short stature, which were often misdiagnosed as benign familial short statur e, and discussed the drawbacks of the current referral
